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Test ID FMTT
Familial Mutation, Targeted Testing

Useful For

Diagnostic or predictive testing for specific conditions when 1
or more mutations have been identified in a family member

Carrier screening for individuals at risk for having a mutation
that was previously identified in a family member

Genetics Test Information

Documentation of the specific familial mutations is required and must be provided
with the specimen in order to perform this test. Consultation with
the laboratory is required prior to ordering this test.

Note: analysis of the
area surrounding the familial variant may be required in the
performance of this assay, which could result in identification of
additional variants. Contact the laboratory at 800-533-1710 with
any questions regarding assay performance.

Reflex Tests

Test ID

Reporting Name

Available Separately

Always Performed

MATCC

Maternal Cell Contamination, B

Yes

No

CULFB

Fibroblast Culture for Genetic
Test

Yes

No

CULAF

Amniotic Fluid Culture/Genetic
Test

Yes

No

_G001

Gene GRHPR

No, (Bill Only)

No

_G002

Gene PPOX

No, (Bill Only)

No

_G003

Gene CFTR_SEQ

No, (Bill Only)

No

_G004

Gene CFTR_MLPA

No, (Bill Only)

No

_G005

Gene MLH1

No, (Bill Only)

No

_G006

Gene MSH2

No, (Bill Only)

No

_G007

Gene MSH6

No, (Bill Only)

No

_G008

Gene MECP2_SEQ

No, (Bill Only)

No

_G009

Gene MLH3

No, (Bill Only)

No

_G010

Gene CHEK2

No, (Bill Only)

No

_G011

Gene IDUA

No, (Bill Only)

No

_G012

Gene AXIN2

No, (Bill Only)

No

_G013

Gene BMPR1A

No, (Bill Only)

No

_G014

Gene PTEN

No, (Bill Only)

No

_G015

Gene SMAD4

No, (Bill Only)

No

_G016

Gene STK11

No, (Bill Only)

No

_G017

Gene TP53

No, (Bill Only)

No

_G018

Gene IDS

No, (Bill Only)

No

_G019

Gene FLCN

No, (Bill Only)

No

_G020

Gene SPINK1

No, (Bill Only)

No

_G021

Gene PRSS1

No, (Bill Only)

No

_G022

Gene CTRC

No, (Bill Only)

No

_G023

Gene MEFV

No, (Bill Only)

No

_G024

Gene TNFRSF1A

No, (Bill Only)

No

_G025

Gene ABCD1

No, (Bill Only)

No

_G026

Gene CDH1

No, (Bill Only)

No

_G027

Gene NAGLU

No, (Bill Only)

No

_G028

Gene SGSH

No, (Bill Only)

No

_G029

Gene ARSB

No, (Bill Only)

No

_G030

Gene GNPTAB

No, (Bill Only)

No

_G031

Gene SEPT9

No, (Bill Only)

No

_G032

Gene ACADVL

No, (Bill Only)

No

_G033

Gene ACADM

No, (Bill Only)

No

_G034

Gene ACADS

No, (Bill Only)

No

_G035

Gene FECH

No, (Bill Only)

No

_G036

Gene MAPT

No, (Bill Only)

No

_G037

Gene PKHD1

No, (Bill Only)

No

_G038

Gene GRN

No, (Bill Only)

No

_G039

Gene FTCD

No, (Bill Only)

No

_G040

Gene CDKN1C

No, (Bill Only)

No

_G041

Gene CPOX

No, (Bill Only)

No

_G042

Gene ATP7B

No, (Bill Only)

No

_G043

Gene GAA

No, (Bill Only)

No

_G044

Gene HMBS

No, (Bill Only)

No

_G045

Gene GALT

No, (Bill Only)

No

_G046

Gene GLA

No, (Bill Only)

No

_G047

Gene BTD

No, (Bill Only)

No

_G048

Gene HEXA

No, (Bill Only)

No

_G049

Gene AGXT

No, (Bill Only)

No

_G050

Gene APC

No, (Bill Only)

No

_G051

Gene MLYCD

No, (Bill Only)

No

_G052

Gene MMACHC

No, (Bill Only)

No

_G053

Gene GBA

No, (Bill Only)

No

_G054

Gene SMPD1

No, (Bill Only)

No

_G055

Gene CPT2

No, (Bill Only)

No

_G056

Gene TTR

No, (Bill Only)

No

_G057

Gene UBE3A

No, (Bill Only)

No

_G058

Gene GALC

No, (Bill Only)

No

_G059

Gene GSN

No, (Bill Only)

No

_G060

Gene LYZ

No, (Bill Only)

No

_G061

Gene FGA

No, (Bill Only)

No

_G062

Gene APOA1

No, (Bill Only)

No

_G063

Gene APOA2

No, (Bill Only)

No

_G064

Gene MMADHC

No, (Bill Only)

No

_G065

Gene SLC25A20

No, (Bill Only)

No

_G066

Gene ARSA

No, (Bill Only)

No

_G067

Gene NPC1/2_SEQ and
NPC1/2_MLPA

No, (Bill Only)

No

_G068

Gene PMS2_LR and PMS2_SEQ

No, (Bill Only)

No

_G069

Gene PMS2_MLPA

No, (Bill Only)

No

_G070

Gene RAI1

No, (Bill Only)

No

_G071

Gene MUTYH

No, (Bill Only)

No

_G072

Gene HGSNAT

No, (Bill Only)

No

_G073

Gene GNS and GRHPR_MLPA

No, (Bill Only)

No

_G074

Gene PSAP

No, (Bill Only)

No

_G075

Single-gene Large Del/Dup

No, (Bill Only)

No

_G076

Gene MECP2_MLPA

No, (Bill Only)

No

_G077

Gene RET

No, (Bill Only)

No

_G078

Gene SUMF1

No, (Bill Only)

No

_G079

Gene CASR_Seq

No, (Bill Only)

No

_G080

Gene VHL_SEQ

No, (Bill Only)

No

_G081

VHL_MLPA

No, (Bill Only)

No

_G082

Gene SHDP_MLPA

No, (Bill Only)

No

_G083

Gene SDHB, SDHC, and SDHD_MLPA

No, (Bill Only)

No

_G084

Gene SDHB, SDHC, SDHD_Seq

No, (Bill Only)

No

_G085

Gene BRCA1

No, (Bill Only)

No

_G086

Gene BRCA2

No, (Bill Only)

No

_G087

Gene DMD_MLPA

No, (Bill Only)

No

_G088

Gene PMP22_MLPA

No, (Bill Only)

No

_G089

Gene MPZ_MLPA

No, (Bill Only)

No

_G102

Gene SERPINA1

No, (Bill Only)

No

_G112

Gene SDHAF2

No, (Bill Only)

No

_G113

Gene TMEM127

No, (Bill Only)

No

_G114

Gene MAX

No, (Bill Only)

No

_G115

Gene SMN1

No, (Bill Only)

No

_G125

Gene PMP22_SEQ

No, (Bill Only)

No

_G127

Gene GJB1_SEQ

No, (Bill Only)

No

_G128

Gene HBA1/HBA2_SEQ

No, (Bill Only)

No

_G129

Gene HBB_SEQ

No, (Bill Only)

No

_G130

Known Familial Variant,Other

No, (Bill Only)

No

G168

Gene CSTB

No, (Bill Only)

No

G169

Gene CACNA1A

No, (Bill Only)

No

Testing Algorithm

For prenatal specimens only: If amniotic fluid
(nonconfluent cultured cells) is received, amniotic fluid culture
will be added and charged separately. If chorionic villus specimen
(nonconfluent cultured cells) is received, fibroblast culture will
be added and charged separately. For any prenatal specimen that is
received, maternal cell contamination studies will be added.

Testing for variants
detected by WES or large panels: Any FMTT orders for a variant
that was detected by whole exome sequencing (WES) or
next-generation sequencing (NGS) large panel assays require a
proband sample that has been previously tested at Mayo Clinic
Laboratories. Contact the laboratory to determine whether adequate
DNA is available in the laboratory or if a new proband sample is
required.

Additional Testing Requirements

All prenatal specimens must be accompanied by a maternal blood
specimen; order MATCC / Maternal Cell Contamination, Molecular
Analysis on the maternal specimen.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Prenatal specimens can be sent Monday through Thursday and
must be received by 5 p.m.
CST on Friday in order to be processed appropriately.

Specimen Required

Refer to Advisory
Information for a complete list of genes tested by specimen
type.

Patient Preparation: A previous bone marrow transplant
from an allogenic donor will interfere with testing. Call
800-533-1710 for instructions for testing patients who have
received a bone marrow transplant.

Specimen Minimum Volume

Specimen Stability Information

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday, Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics
determined by Mayo Clinic in a manner consistent with CLIA
requirements. This test has not been cleared or approved by the
U.S. Food and Drug Administration.

LOINC Code Information

Test ID

Test Order Name

Order LOINC Value

FMTT

Familial Mutation, Targeted
Testing

51966-0

Result ID

Test Result Name

Result LOINC Value

36528

Result Summary

50397-9

36529

Result

In Process

36530

Interpretation

69047-9

36531

Additional Information

48767-8

36532

Specimen

31208-2

36533

Source

31208-2

36534

Method

49549-9

36535

Released By

18771-6

Forms

1. New York Clients-Informed consent is required. Please
document on the request form or electronic order that a copy is on
file. An Informed Consent for Genetic Testing (T576) is
available in Special
Instructions.